Mission

The mission of the Disease Ontology (DO) is to provide an open source
ontology for the integration of biomedical data that is associated with
human disease. DO will have a formally correct (in the ontology sense),
semantically computable structure. Terms in DO will be well defined, using
standard references. These terms will be linked to well-established,
well-adopted terminologies that contain disease and disease-related
concepts such as SNOMED (we are working with SNOMED to see if we can
release SNOMED codes linked via UMLS to the community), ICD-9 and ICD-10,
MeSH, and UMLS. The combination of a semantically computable structure and
the external references to these terminologies will enable useful inference
between disparate datasets using one or more of these standard
terminologies to code disease. The Disease Ontology will be, at the end of
this project, a community-driven, community-accepted ontology of diseases
for clinical research and medicine inclusive of genetic, environmental and
infectious diseases. The Disease Ontology will encapsulate, therefore, a
comprehensive theory of disease. The design of the disease ontology will
enable greater understanding of disease states by placing heritable
disorders in the context of other infectious diseases and related diseases.
The structure of Disease Ontology and the external references to other
terminologies will enable the integration of disparate datasets through the
concept of disease.

Scope

The Disease Ontology is a community driven, open source ontology that is
designed to link disparate datasets through disease concepts. We will
provide a computable structure of inheritable, environmental and infectious
origins of human disease to facilitate the connection of genetic data,
clinical data, and symptoms through the lens of human disease. We hope and
anticipate that this will be useful for coupling disease concepts in model
organisms to human disease concepts. The Disease Ontology should enable
the cross-walk between disease concepts, genes contributing to disease, and
the 'cloud' of associated symptoms, findings and signs. The use of the
disease ontology requires these connections to be done through
evidence-based associations. Our understanding of disease, and the
association of disease with phenotype, environment, and genetics is dynamic
and a reflection of current knowledge. The Disease Ontology is currently
under review as part of the OBO Foundry review process.

Location

The Disease Ontology is a project of the Institute of Genome Sciences
University of Maryland School of Medicine at 670 West Baltimore St.
Baltimore, MD 21201